ArticleAmerican journal of medical genetics. Part A2017
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.Journal of clinical immunology · 2023Pooled it
- Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.European journal of human genetics : EJHG · 2022Article
- A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.BMC medical genomics · 2021Article
- IPEX Syndrome: Genetics and Treatment Options.Genes · 2021Review
- Thymic origins of autoimmunity-lessons from inborn errors of immunity.Seminars in immunopathology · 2021Review
- Identification of Differentially Expressed Genes in COVID-19 and Integrated Bioinformatics Analysis of Signaling Pathways.Genetics research · 2021Article
- A Structure-Guided Delineation of FOXP3 Regulation Mechanism in IPEX.Advances in experimental medicine and biology · 2021Article
- Intrauterine IPEX.Frontiers in pediatrics · 2020Review
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.Brain : a journal of neurology · 2020Article
- Article
- Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.The Journal of experimental medicine · 2019Article
- CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.Nature communications · 2018Article
- Two unrelated patients with autosomal dominant omodysplasia andClinical case reports · 2018Article
- BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.Brain : a journal of neurology · 2018Article
- Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.European journal of human genetics : EJHG · 2018Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin-dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23. FOXP3 encodes a transcription factor that interacts with several partners, including NFAT and NF-κB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy. Only five families with prenatal presentation of IPEX syndrome have been reported. Here, we present two additional prenatal onset cases with novel inherited frameshift pathogenic variants in FOXP3 that generate premature stop codons. Ultrasound findings in the first patient identified echogenic bowel, echogenic debris, scalp edema, and hydrops. In the second patient, ultrasound findings included polyhydramnios with echogenic debris, prominent fluid-filled loops of bowel, and echogenic bowel. These cases further broaden the phenotypic spectrum of IPEX syndrome by describing previously unappreciated prenatal ultrasound findings associated with the disease.
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Registered trials
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